Rph3al MGI Mouse Gene Detail - MGI:1923492 - rabphilin 3A-like (without C2 domains)

Symbol

Rph3al
Name

rabphilin 3A-like (without C2 domains)
Synonyms

6530413F01Rik, LOC385671, Noc2

Feature Type

protein coding gene
IDs

MGI:1923492
NCBI Gene: 380714
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr11:75721825-75829255 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 45.92 cM, cytoband B4
Mapping Data

4 experiments

SNPs within 2kb

3046 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923492	protein coding gene	Chr11:75721818-75858440 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018724	protein coding gene	Chr11:76609633-76722731 (-)
A/J	MGP_AJ_G0018690	protein coding gene	Chr11:73755415-73863243 (-)
AKR/J	MGP_AKRJ_G0018660	protein coding gene	Chr11:75991968-76099031 (-)
BALB/cJ	MGP_BALBcJ_G0018664	protein coding gene	Chr11:74133080-74240539 (-)
C3H/HeJ	MGP_C3HHeJ_G0018477	protein coding gene	Chr11:76004482-76113297 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019115	protein coding gene	Chr11:79030367-79139026 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016750	protein coding gene	Chr11:70770302-70878493 (-)
CAST/EiJ	MGP_CASTEiJ_G0018031	protein coding gene	Chr11:76403769-76512826 (-)
CBA/J	MGP_CBAJ_G0018447	protein coding gene	Chr11:82487429-82598795 (-)
DBA/2J	MGP_DBA2J_G0018556	protein coding gene	Chr11:73356236-73464454 (-)
FVB/NJ	MGP_FVBNJ_G0018546	protein coding gene	Chr11:72917909-73027509 (-)
LP/J	MGP_LPJ_G0018627	protein coding gene	Chr11:77190799-77300581 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018572	protein coding gene	Chr11:83010607-83122101 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019155	protein coding gene	Chr11:76200205-76310095 (-)
PWK/PhJ	MGP_PWKPhJ_G0017802	protein coding gene	Chr11:74066542-74176471 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017593	protein coding gene	Chr11:75759744-75875993 (-)
WSB/EiJ	MGP_WSBEiJ_G0018084	protein coding gene	Chr11:76014610-76124021 (-)

Human Ortholog

RPH3AL, rabphilin 3A like (without C2 domains)

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RPH3AL, rabphilin 3A like (without C2 domains)
Synonyms

NOC2
Links

HGNC:10296

NCBI Gene ID: 9501

neXtProt AC: NX_Q9UNE2

UniProt: Q9UNE2
Chr Location

17p13.3; chr17:212389-386254 (-) GRCh38

MGI Vertebrate Homology

Rph3al stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: RPH3AL
Gene Tree

Rph3al

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

9
Chemically induced (other)

1
Endonuclease-mediated

2
Targeted

6
Genomic Mutations

2 involving Rph3al
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

20 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit disregulation of exocytosis in both endocrine and exocrine cells.

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All GO Annotations

31
GO References

9

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

7

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rph3al

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All Sequences

75
RefSeq

28
UniProt

2
CCDS

CCDS25058.1, CCDS70243.1

Ensembl

ENSMUSG00000020847 (Evidence)
NCBI Gene

380714

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020847	Ensembl Gene Model \| MGI Sequence Detail	107431	C57BL/6J	± kb
transcript	ENSMUST00000066504	Ensembl \| MGI Sequence Detail	988	Not Applicable
polypeptide	ENSMUSP00000064202	Ensembl \| MGI Sequence Detail	302	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000014185 Rab effector Noc2

(term hierarchy)
InterPro Domains

IPR041282 FYVE-type zinc finger

IPR010911 Rab-binding domain

IPR041857 Rab effector Noc2, FYVE domain

IPR043566 Rabphilin/Doc2/Noc2

IPR011011 Zinc finger, FYVE/PHD-type

IPR017455 Zinc finger, FYVE-related

IPR013083 Zinc finger, RING/FYVE/PHD-type

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All nucleic 7

cDNA 7

Microarray probesets 3

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MGI:2144220, MGI:2686599

Summaries

All 44

Gene Ontology 9

Phenotypes 14
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:246195 Matsunaga K, et al., Rab2a and Rab27a cooperatively regulate the transition from granule maturation to exocytosis through the dual effector Noc2. J Cell Sci. 2017 Feb 01;130(3):541-550

TSS for Rph3al:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr109234	Chr11:75828552-75828578 (-)	690 bp
Tssr109233	Chr11:75828503-75828548 (-)	729 bp
Tssr109232	Chr11:75817317-75817325 (-)	11,934 bp
Tssr109231	Chr11:75816727-75816772 (-)	12,505 bp
Tssr109230	Chr11:75797514-75797540 (-)	31,728 bp
Tssr109229	Chr11:75797499-75797510 (-)	31,750 bp
Tssr109228	Chr11:75738522-75738528 (-)	90,730 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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